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rs281875227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875227(C;T)
Make rs281875227(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11021761
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs281875227
ebirs281875227
HLIrs281875227
Exacrs281875227
Varsomers281875227
Maprs281875227
PheGenIrs281875227
hapmaprs281875227
1000 genomesrs281875227
hgdprs281875227
ensemblrs281875227
gopubmedrs281875227
geneviewrs281875227
scholarrs281875227
googlers281875227
pharmgkbrs281875227
gwascentralrs281875227
openSNPrs281875227
23andMers281875227
23andMe allrs281875227
SNP Nexus

SNPshotrs281875227
SNPdbers281875227
MSV3drs281875227
GWAS Ctlgrs281875227
Max Magnitude0
ClinVar
Risk rs281875227(T;T)
Alt rs281875227(T;T)
Reference rs281875227(C;C)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene SMARCA4
CLNDBN Mental retardation, autosomal dominant 16 not provided
Reversed 0
HGVS NC_000019.9:g.11132437C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023286.4, RCV000059685.1,


[PMID 22426308] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.